[HTML][HTML] Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11. 2 deletion result in a novel autosomal recessive condition
M Unolt, M Kammoun, B Nowakowska, GE Graham… - Genetics in …, 2020 - Elsevier
Abstract Purpose The 22q11. 2 deletion syndrome (22q11. 2DS) is the most common
microdeletion in humans, with highly variable phenotypic expression. Whereas congenital
heart defects, palatal anomalies, immunodeficiency, hypoparathyroidism, and
neuropsychiatric conditions are observed in over 50% of patients with 22q11DS, a subset of
patients present with additional “atypical” findings such as craniosynostosis and anorectal
malformations. Recently, pathogenic variants in the CDC45 (Cell Division Cycle protein 45) …
microdeletion in humans, with highly variable phenotypic expression. Whereas congenital
heart defects, palatal anomalies, immunodeficiency, hypoparathyroidism, and
neuropsychiatric conditions are observed in over 50% of patients with 22q11DS, a subset of
patients present with additional “atypical” findings such as craniosynostosis and anorectal
malformations. Recently, pathogenic variants in the CDC45 (Cell Division Cycle protein 45) …